spinal rigidity Gene Set
Genes
17 genes associated with the spinal rigidity phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
| Symbol |
Name |
|
ACTA1
|
actin, alpha 1, skeletal muscle
|
|
ACVR1
|
activin A receptor, type I
|
|
BAG3
|
BCL2-associated athanogene 3
|
|
COL6A1
|
collagen, type VI, alpha 1
|
|
COL6A2
|
collagen, type VI, alpha 2
|
|
COL6A3
|
collagen, type VI, alpha 3
|
|
FHL1
|
four and a half LIM domains 1
|
|
FKTN
|
fukutin
|
|
HSPG2
|
heparan sulfate proteoglycan 2
|
|
LMNA
|
lamin A/C
|
|
MGME1
|
mitochondrial genome maintenance exonuclease 1
|
|
NEB
|
nebulin
|
|
POMT1
|
protein-O-mannosyltransferase 1
|
|
POMT2
|
protein-O-mannosyltransferase 2
|
|
PTRF
|
polymerase I and transcript release factor
|
|
SEPN1
|
selenoprotein N, 1
|
|
TNPO3
|
transportin 3
|
